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Apparent Prader-Willi phenotype in a woman with ring chromosome 9
1Central Wisconsin Center for the Developmentally Disabled, Madison.
Abstract:
A 25-year-old mentally retarded woman was evaluated because of her socially inappropriate behavior. She had a phenotype so closely resembling that of the Prader-Willi syndrome that several experienced clinical geneticists immediately identified her as having that condition. Chromosome analysis showed a ring chromosome 9 but no apparent abnormality of chromosome 15.